SNP Links for Gene (Select 79998) - SNP

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Select item 14906661531.

rs1490666153 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:70978286 (GRCh38)
2:71205416 (GRCh37)
Canonical SPDI:: NC_000002.12:70978285:T:G
Gene:: ANKRD53 (Varview), LOC105374795 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.70978286T>G, NC_000002.11:g.71205416T>G, NW_004504299.1:g.544567T>G

Select item 14901341422.

rs1490134142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:70985291 (GRCh38)
2:71212421 (GRCh37)
Canonical SPDI:: NC_000002.12:70985290:C:T
Gene:: ANKRD53 (Varview), LOC105374795 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70985291C>T, NC_000002.11:g.71212421C>T, NW_004504299.1:g.551572C>T, NM_024933.4:c.*679C>T, NM_024933.3:c.*679C>T, XM_011533114.4:c.1419C>T, XM_011533114.3:c.1419C>T, XM_011533114.2:c.1419C>T, XM_011533114.1:c.1419C>T, NM_001115116.2:c.1584C>T, NM_001115116.1:c.1584C>T, XM_047445904.1:c.*679C>T, XM_047445905.1:c.*679C>T, NM_001369683.1:c.1482C>T

Select item 14899719033.

rs1489971903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:70984953 (GRCh38)
2:71212083 (GRCh37)
Canonical SPDI:: NC_000002.12:70984952:C:A,NC_000002.12:70984952:C:G
Gene:: ANKRD53 (Varview), LOC105374795 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000065/10 (GnomAD_exomes)
HGVS:: NC_000002.12:g.70984953C>A, NC_000002.12:g.70984953C>G, NC_000002.11:g.71212083C>A, NC_000002.11:g.71212083C>G, NW_004504299.1:g.551234C>A, NW_004504299.1:g.551234C>G, NM_024933.4:c.*341C>A, NM_024933.4:c.*341C>G, NM_024933.3:c.*341C>A, NM_024933.3:c.*341C>G, XM_011533114.4:c.1081C>A, XM_011533114.4:c.1081C>G, XM_011533114.3:c.1081C>A, XM_011533114.3:c.1081C>G, XM_011533114.2:c.1081C>A, XM_011533114.2:c.1081C>G, XM_011533114.1:c.1081C>A, XM_011533114.1:c.1081C>G, NM_001115116.2:c.1246C>A, NM_001115116.2:c.1246C>G, NM_001115116.1:c.1246C>A, NM_001115116.1:c.1246C>G, XM_047445904.1:c.*341C>A, XM_047445904.1:c.*341C>G, XM_047445905.1:c.*341C>A, XM_047445905.1:c.*341C>G, NM_001369683.1:c.1144C>A, NM_001369683.1:c.1144C>G, XP_011531416.1:p.Pro361Thr, XP_011531416.1:p.Pro361Ala, NP_001108588.1:p.Pro416Thr, NP_001108588.1:p.Pro416Ala, NP_001356612.1:p.Pro382Thr, NP_001356612.1:p.Pro382Ala

Select item 14898481224.

rs1489848122 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAA [Show Flanks]
Chromosome:: 2:70977777 (GRCh38)
2:71204908 (GRCh37)
Canonical SPDI:: NC_000002.12:70977777:ATAA:ATAATAA
Gene:: ANKRD53 (Varview), LOC105374795 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: ATAATAA=0./0 (ALFA)
ATA=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.70977779_70977781dup, NC_000002.11:g.71204909_71204911dup, NW_004504299.1:g.544060_544062dup

Select item 14897668545.

rs1489766854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:70976852 (GRCh38)
2:71203982 (GRCh37)
Canonical SPDI:: NC_000002.12:70976851:G:A
Gene:: ANKRD53 (Varview), LOC105374795 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.70976852G>A, NC_000002.11:g.71203982G>A, NW_004504299.1:g.543133G>A

Select item 14894008706.

rs1489400870 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:70981115 (GRCh38)
2:71208245 (GRCh37)
Canonical SPDI:: NC_000002.12:70981114:A:G
Gene:: ANKRD53 (Varview), LOC105374795 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70981115A>G, NC_000002.11:g.71208245A>G, NW_004504299.1:g.547396A>G

Select item 14893094767.

rs1489309476 has merged into rs35991485 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:70980330 (GRCh38)
2:71207460 (GRCh37)
Canonical SPDI:: NC_000002.12:70980318:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:70980318:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:70980318:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:70980318:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:70980318:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:70980318:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:70980318:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:70980318:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:70980318:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70980318:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70980318:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70980318:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70980318:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70980318:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:70980318:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ANKRD53 (Varview), LOC105374795 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.70980330_70980338del, NC_000002.12:g.70980331_70980338del, NC_000002.12:g.70980332_70980338del, NC_000002.12:g.70980334_70980338del, NC_000002.12:g.70980335_70980338del, NC_000002.12:g.70980336_70980338del, NC_000002.12:g.70980337_70980338del, NC_000002.12:g.70980338del, NC_000002.12:g.70980338dup, NC_000002.12:g.70980337_70980338dup, NC_000002.12:g.70980336_70980338dup, NC_000002.12:g.70980335_70980338dup, NC_000002.12:g.70980334_70980338dup, NC_000002.12:g.70980333_70980338dup, NC_000002.12:g.70980331_70980338dup, NC_000002.11:g.71207460_71207468del, NC_000002.11:g.71207461_71207468del, NC_000002.11:g.71207462_71207468del, NC_000002.11:g.71207464_71207468del, NC_000002.11:g.71207465_71207468del, NC_000002.11:g.71207466_71207468del, NC_000002.11:g.71207467_71207468del, NC_000002.11:g.71207468del, NC_000002.11:g.71207468dup, NC_000002.11:g.71207467_71207468dup, NC_000002.11:g.71207466_71207468dup, NC_000002.11:g.71207465_71207468dup, NC_000002.11:g.71207464_71207468dup, NC_000002.11:g.71207463_71207468dup, NC_000002.11:g.71207461_71207468dup, NW_004504299.1:g.546611_546619del, NW_004504299.1:g.546612_546619del, NW_004504299.1:g.546613_546619del, NW_004504299.1:g.546615_546619del, NW_004504299.1:g.546616_546619del, NW_004504299.1:g.546617_546619del, NW_004504299.1:g.546618_546619del, NW_004504299.1:g.546619del, NW_004504299.1:g.546619dup, NW_004504299.1:g.546618_546619dup, NW_004504299.1:g.546617_546619dup, NW_004504299.1:g.546616_546619dup, NW_004504299.1:g.546615_546619dup, NW_004504299.1:g.546614_546619dup, NW_004504299.1:g.546612_546619dup

Select item 14876665388.

rs1487666538 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:70979976 (GRCh38)
2:71207106 (GRCh37)
Canonical SPDI:: NC_000002.12:70979975:T:C
Gene:: ANKRD53 (Varview), LOC105374795 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70979976T>C, NC_000002.11:g.71207106T>C, NW_004504299.1:g.546257T>C

Select item 14873798869.

rs1487379886 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:70979611 (GRCh38)
2:71206741 (GRCh37)
Canonical SPDI:: NC_000002.12:70979610:T:C
Gene:: ANKRD53 (Varview), LOC105374795 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.70979611T>C, NC_000002.11:g.71206741T>C, NW_004504299.1:g.545892T>C

Select item 148634854110.

rs1486348541 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:70981458 (GRCh38)
2:71208588 (GRCh37)
Canonical SPDI:: NC_000002.12:70981455:AGAG:AG
Gene:: ANKRD53 (Varview), LOC105374795 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70981456AG[1], NC_000002.11:g.71208586AG[1], NW_004504299.1:g.547737AG[1]

Select item 148603444411.

rs1486034444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:70978632 (GRCh38)
2:71205762 (GRCh37)
Canonical SPDI:: NC_000002.12:70978631:G:T
Gene:: ANKRD53 (Varview), LOC105374795 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.70978632G>T, NC_000002.11:g.71205762G>T, NW_004504299.1:g.544913G>T, NM_024933.4:c.-14G>T, NM_024933.3:c.-14G>T, XM_011533114.4:c.-14G>T, XM_011533114.3:c.-14G>T, XM_011533114.2:c.-14G>T, XM_011533114.1:c.-14G>T, NM_001115116.2:c.-14G>T, NM_001115116.1:c.-14G>T, XM_047445904.1:c.-14G>T, XM_047445905.1:c.-14G>T, NM_001369683.1:c.-14G>T

Select item 148591090912.

rs1485910909 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:70975650 (GRCh38)
2:71202780 (GRCh37)
Canonical SPDI:: NC_000002.12:70975649:T:C
Gene:: LOC105374795 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70975650T>C, NC_000002.11:g.71202780T>C, NW_004504299.1:g.541931T>C, XR_001739534.2:n.1098A>G, XR_001739534.1:n.1096A>G

Select item 148501670113.

rs1485016701 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:70980413 (GRCh38)
2:71207543 (GRCh37)
Canonical SPDI:: NC_000002.12:70980412:C:T
Gene:: ANKRD53 (Varview), LOC105374795 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000002.12:g.70980413C>T, NC_000002.11:g.71207543C>T, NW_004504299.1:g.546694C>T

Select item 148498605814.

rs1484986058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:70981227 (GRCh38)
2:71208357 (GRCh37)
Canonical SPDI:: NC_000002.12:70981226:C:T
Gene:: ANKRD53 (Varview), LOC105374795 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.70981227C>T, NC_000002.11:g.71208357C>T, NW_004504299.1:g.547508C>T

Select item 148449137215.

rs1484491372 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGG [Show Flanks]
Chromosome:: 2:70981605 (GRCh38)
2:71208736 (GRCh37)
Canonical SPDI:: NC_000002.12:70981605:CGG:CGGCGG
Gene:: ANKRD53 (Varview), LOC105374795 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGGCGG=0.000071/1 (ALFA)
CGG=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.70981606_70981608dup, NC_000002.11:g.71208736_71208738dup, NW_004504299.1:g.547887_547889dup

Select item 148430563316.

rs1484305633 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:70977297 (GRCh38)
2:71204427 (GRCh37)
Canonical SPDI:: NC_000002.12:70977296:T:C
Gene:: ANKRD53 (Varview), LOC105374795 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.70977297T>C, NC_000002.11:g.71204427T>C, NW_004504299.1:g.543578T>C

Select item 148421404417.

rs1484214044 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:70976249 (GRCh38)
2:71203379 (GRCh37)
Canonical SPDI:: NC_000002.12:70976248:A:C
Gene:: LOC105374795 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70976249A>C, NC_000002.11:g.71203379A>C, NW_004504299.1:g.542530A>C, XR_001739534.2:n.499T>G, XR_001739534.1:n.497T>G

Select item 148366416718.

rs1483664167 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:70983193 (GRCh38)
2:71210323 (GRCh37)
Canonical SPDI:: NC_000002.12:70983192:G:T
Gene:: ANKRD53 (Varview), LOC105374795 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000106/2 (TOMMO)
HGVS:: NC_000002.12:g.70983193G>T, NC_000002.11:g.71210323G>T, NW_004504299.1:g.549474G>T

Select item 148327768119.

rs1483277681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:70984553 (GRCh38)
2:71211683 (GRCh37)
Canonical SPDI:: NC_000002.12:70984552:G:A
Gene:: ANKRD53 (Varview), LOC105374795 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.70984553G>A, NC_000002.11:g.71211683G>A, NW_004504299.1:g.550834G>A

Select item 148321886120.

rs1483218861 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:70983567 (GRCh38)
2:71210697 (GRCh37)
Canonical SPDI:: NC_000002.12:70983566:G:A
Gene:: ANKRD53 (Varview), LOC105374795 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.70983567G>A, NC_000002.11:g.71210697G>A, NW_004504299.1:g.549848G>A

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